9月12日是預防(fang)出生缺陷(xian)(xian)日。長期以(yi)來，甘肅(su)省(sheng)(sheng)將(jiang)出生缺陷(xian)(xian)綜合(he)(he)防(fang)治(zhi)(zhi)作為婦幼(you)健(jian)康工作的重(zhong)中之重(zhong)，圍(wei)繞(rao)出生缺陷(xian)(xian)三級(ji)預防(fang)，堅持多措(cuo)并舉，防(fang)治(zhi)(zhi)結合(he)(he)，緊盯婚前、孕前、孕期和(he)新生兒等重(zhong)點(dian)環節，不斷健(jian)全(quan)完善(shan)出生缺陷(xian)(xian)防(fang)治(zhi)(zhi)工作機制，切實強(qiang)化綜合(he)(he)防(fang)控措(cuo)施，全(quan)省(sheng)(sheng)近年來包(bao)括(kuo)神經管畸形等嚴重(zhong)出生缺陷(xian)(xian)疾病得到有效預防(fang)，出生缺陷(xian)(xian)防(fang)治(zhi)(zhi)取得明顯成(cheng)效。

　　一級(ji)(ji)預防方面(mian)，甘(gan)肅省(sheng)在加(jia)(jia)強婚(hun)(hun)(hun)育人(ren)群針對性宣傳教育和咨(zi)詢指(zhi)導(dao)的同時，重點實施國(guo)家免(mian)費孕(yun)前(qian)(qian)(qian)(qian)(qian)優生(sheng)(sheng)(sheng)健康(kang)檢查項(xiang)目、農(nong)村(cun)婦女增(zeng)補葉(xie)酸(suan)預防神經管畸形(xing)項(xiang)目，將婚(hun)(hun)(hun)前(qian)(qian)(qian)(qian)(qian)保(bao)健、婚(hun)(hun)(hun)前(qian)(qian)(qian)(qian)(qian)醫學(xue)檢查與孕(yun)前(qian)(qian)(qian)(qian)(qian)優生(sheng)(sheng)(sheng)健康(kang)檢查、增(zeng)補葉(xie)酸(suan)、避孕(yun)藥具發放、優生(sheng)(sheng)(sheng)咨(zi)詢指(zhi)導(dao)等(deng)(deng)服務有機結合，著力加(jia)(jia)強婚(hun)(hun)(hun)前(qian)(qian)(qian)(qian)(qian)孕(yun)前(qian)(qian)(qian)(qian)(qian)保(bao)健咨(zi)詢與指(zhi)導(dao)，婚(hun)(hun)(hun)檢率(lv)(lv)逐(zhu)年上升(sheng)。截(jie)至2023年年底，孕(yun)前(qian)(qian)(qian)(qian)(qian)優生(sheng)(sheng)(sheng)健康(kang)檢查率(lv)(lv)100%，群眾優生(sheng)(sheng)(sheng)科學(xue)知識知曉率(lv)(lv)為(wei)(wei)90.11%，先(xian)天(tian)性心臟(zang)病(bing)、唐氏(shi)綜合征、耳聾、神經管缺陷(xian)(xian)等(deng)(deng)嚴重出生(sheng)(sheng)(sheng)缺陷(xian)(xian)得(de)到有效(xiao)控制。二級(ji)(ji)預防方面(mian)，通(tong)過實施農(nong)村(cun)孕(yun)產(chan)婦產(chan)前(qian)(qian)(qian)(qian)(qian)篩(shai)查補助項(xiang)目，推廣應(ying)用產(chan)前(qian)(qian)(qian)(qian)(qian)超聲、無(wu)創DNA產(chan)前(qian)(qian)(qian)(qian)(qian)篩(shai)查等(deng)(deng)技術，全(quan)(quan)省(sheng)產(chan)前(qian)(qian)(qian)(qian)(qian)篩(shai)查率(lv)(lv)呈逐(zhu)年上升(sheng)趨勢，2023年達到91.43%。三級(ji)(ji)預防方面(mian)，通(tong)過實施新生(sheng)(sheng)(sheng)兒(er)多種遺傳代謝病(bing)篩(shai)查項(xiang)目、貧困聽(ting)障兒(er)童救治等(deng)(deng)項(xiang)目，切實加(jia)(jia)強新生(sheng)(sheng)(sheng)兒(er)遺傳代謝病(bing)和聽(ting)力篩(shai)查，全(quan)(quan)省(sheng)新生(sheng)(sheng)(sheng)兒(er)“兩(liang)病(bing)”篩(shai)查率(lv)(lv)和聽(ting)力篩(shai)查率(lv)(lv)2023年分別為(wei)(wei)99.71%、99.70%，均(jun)優于全(quan)(quan)國(guo)平(ping)均(jun)水平(ping)。在省(sheng)級(ji)(ji)財政和中(zhong)國(guo)出生(sheng)(sheng)(sheng)缺陷(xian)(xian)干預救助基金(jin)會的支(zhi)持(chi)下，為(wei)(wei)貧困聽(ting)障患(huan)(huan)兒(er)實施免(mian)費人(ren)工(gong)耳蝸(gua)的植入手術，為(wei)(wei)多種遺傳代謝病(bing)和先(xian)天(tian)性結構畸形(xing)患(huan)(huan)兒(er)給予救助費用補助，使(shi)出生(sheng)(sheng)(sheng)缺陷(xian)(xian)患(huan)(huan)者救治得(de)到有效(xiao)保(bao)障。

　　甘(gan)肅(su)(su)省(sheng)(sheng)加(jia)強(qiang)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)的(de)主(zhu)要做法(fa)：一是(shi)持續提(ti)升(sheng)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)綜合(he)(he)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)能力(li)。強(qiang)化(hua)頂層設(she)計，聯合(he)(he)省(sheng)(sheng)財政廳、醫保(bao)(bao)(bao)局等11個(ge)部(bu)門(men)出(chu)臺(tai)《甘(gan)肅(su)(su)省(sheng)(sheng)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)管理(li)(li)辦法(fa)》，推(tui)(tui)動建(jian)(jian)立政府(fu)主(zhu)導、多部(bu)門(men)參與的(de)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)聯合(he)(he)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)機制(zhi)。同時，省(sheng)(sheng)衛生(sheng)(sheng)(sheng)(sheng)健(jian)康委印(yin)發《甘(gan)肅(su)(su)省(sheng)(sheng)產(chan)(chan)(chan)前(qian)(qian)(qian)診(zhen)(zhen)斷(duan)(duan)(duan)技(ji)術管理(li)(li)辦法(fa)實施細(xi)則》，進一步規范(fan)全(quan)省(sheng)(sheng)產(chan)(chan)(chan)前(qian)(qian)(qian)篩(shai)查(cha)(cha)與產(chan)(chan)(chan)前(qian)(qian)(qian)診(zhen)(zhen)斷(duan)(duan)(duan)技(ji)術應用的(de)監督管理(li)(li)。完善(shan)服(fu)(fu)務體(ti)系，在省(sheng)(sheng)婦幼保(bao)(bao)(bao)健(jian)院(yuan)設(she)立了省(sheng)(sheng)級(ji)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)管理(li)(li)中(zhong)心(xin)，強(qiang)化(hua)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)管理(li)(li)。加(jia)強(qiang)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)體(ti)系建(jian)(jian)設(she)，目(mu)前(qian)(qian)(qian)有省(sheng)(sheng)級(ji)產(chan)(chan)(chan)前(qian)(qian)(qian)診(zhen)(zhen)斷(duan)(duan)(duan)機構5家(jia)(jia)(jia)，市(shi)級(ji)新生(sheng)(sheng)(sheng)(sheng)兒(er)篩(shai)查(cha)(cha)中(zhong)心(xin)7家(jia)(jia)(jia)、產(chan)(chan)(chan)前(qian)(qian)(qian)篩(shai)查(cha)(cha)中(zhong)心(xin)20家(jia)(jia)(jia)。建(jian)(jian)立省(sheng)(sheng)級(ji)遺(yi)傳代謝病(bing)和聽(ting)力(li)障礙診(zhen)(zhen)療中(zhong)心(xin)各1家(jia)(jia)(jia)，市(shi)級(ji)遺(yi)傳代謝病(bing)篩(shai)查(cha)(cha)中(zhong)心(xin)5家(jia)(jia)(jia)，市(shi)縣(xian)級(ji)聽(ting)力(li)醫學診(zhen)(zhen)斷(duan)(duan)(duan)分中(zhong)心(xin)50家(jia)(jia)(jia)。完善(shan)出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)信息(xi)系統建(jian)(jian)設(she)，在全(quan)省(sheng)(sheng)287家(jia)(jia)(jia)醫療保(bao)(bao)(bao)健(jian)機構部(bu)署出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)綜合(he)(he)防(fang)(fang)(fang)(fang)(fang)控網(wang)絡信息(xi)系統，加(jia)強(qiang)數(shu)據報(bao)送，推(tui)(tui)進數(shu)據共(gong)享。二是(shi)強(qiang)化(hua)人才(cai)隊(dui)伍建(jian)(jian)設(she)，提(ti)供人才(cai)保(bao)(bao)(bao)障。連續三年實施出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)人才(cai)培(pei)訓項(xiang)目(mu)，加(jia)強(qiang)省(sheng)(sheng)級(ji)師資隊(dui)伍建(jian)(jian)設(she)，截至目(mu)前(qian)(qian)(qian)，已(yi)開展出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)人才(cai)培(pei)訓項(xiang)目(mu)7期，培(pei)訓學員1070名，充實了出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)專(zhuan)業人才(cai)隊(dui)伍。依(yi)托國家(jia)(jia)(jia)免費孕(yun)(yun)前(qian)(qian)(qian)優生(sheng)(sheng)(sheng)(sheng)健(jian)康檢查(cha)(cha)、孕(yun)(yun)前(qian)(qian)(qian)和孕(yun)(yun)早期葉酸補(bu)服(fu)(fu)、新生(sheng)(sheng)(sheng)(sheng)兒(er)遺(yi)傳代謝病(bing)篩(shai)查(cha)(cha)以及(ji)甘(gan)肅(su)(su)省(sheng)(sheng)產(chan)(chan)(chan)前(qian)(qian)(qian)篩(shai)查(cha)(cha)補(bu)助、貧困聽(ting)障兒(er)童救(jiu)治(zhi)(zhi)等項(xiang)目(mu)實施，加(jia)強(qiang)技(ji)術人員培(pei)訓，提(ti)高其出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)意識和防(fang)(fang)(fang)(fang)(fang)治(zhi)(zhi)水平，為出(chu)生(sheng)(sheng)(sheng)(sheng)缺(que)陷(xian)(xian)(xian)綜合(he)(he)防(fang)(fang)(fang)(fang)(fang)控提(ti)供了人力(li)資源和人才(cai)保(bao)(bao)(bao)障。三是(shi)各級(ji)政府(fu)及(ji)各有關部(bu)門(men)加(jia)大政策支(zhi)持和經費投入(ru)，確保(bao)(bao)(bao)三級(ji)預(yu)防(fang)(fang)(fang)(fang)(fang)措施落實。四是(shi)強(qiang)化(hua)宣(xuan)傳動員，營造良好的(de)工作氛(fen)圍。

　　下一(yi)(yi)步，甘肅省將嚴格(ge)按(an)照國家《出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)防治(zhi)(zhi)(zhi)能(neng)力(li)提升計劃(hua)(2023-2027年)》要求(qiu)(qiu)，健(jian)全服(fu)務(wu)體系，優化(hua)出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)防治(zhi)(zhi)(zhi)服(fu)務(wu)流程，全面做好出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)三級(ji)(ji)預防工作。一(yi)(yi)是(shi)(shi)(shi)健(jian)全服(fu)務(wu)網絡(luo)。發揮省級(ji)(ji)產(chan)前(qian)(qian)(qian)診(zhen)斷(duan)(duan)(duan)中(zhong)心(xin)(xin)(xin)、新(xin)(xin)(xin)(xin)生(sheng)(sheng)(sheng)(sheng)(sheng)兒(er)遺(yi)傳代謝病(bing)診(zhen)斷(duan)(duan)(duan)中(zhong)心(xin)(xin)(xin)、新(xin)(xin)(xin)(xin)生(sheng)(sheng)(sheng)(sheng)(sheng)兒(er)聽(ting)力(li)障礙診(zhen)斷(duan)(duan)(duan)中(zhong)心(xin)(xin)(xin)的(de)(de)技術支撐和引領作用，按(an)照“縣級(ji)(ji)能(neng)篩(shai)查(cha)(cha)、地(di)市(shi)能(neng)診(zhen)斷(duan)(duan)(duan)”的(de)(de)目標要求(qiu)(qiu)，提升市(shi)縣級(ji)(ji)產(chan)前(qian)(qian)(qian)診(zhen)斷(duan)(duan)(duan)技術服(fu)務(wu)機(ji)構(gou)、新(xin)(xin)(xin)(xin)生(sheng)(sheng)(sheng)(sheng)(sheng)兒(er)遺(yi)傳代謝病(bing)篩(shai)查(cha)(cha)中(zhong)心(xin)(xin)(xin)、聽(ting)力(li)篩(shai)查(cha)(cha)中(zhong)心(xin)(xin)(xin)能(neng)力(li)建設。二是(shi)(shi)(shi)強化(hua)人(ren)(ren)才(cai)(cai)(cai)隊(dui)伍(wu)建設。依托出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)防治(zhi)(zhi)(zhi)人(ren)(ren)才(cai)(cai)(cai)培(pei)訓(xun)項目，充分應用“云(yun)上婦(fu)幼”遠程醫療(liao)(liao)信息平(ping)臺，落實(shi)“大(da)手拉小手”行動(dong)要求(qiu)(qiu)，加大(da)出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)遺(yi)傳咨(zi)詢、產(chan)前(qian)(qian)(qian)篩(shai)查(cha)(cha)與產(chan)前(qian)(qian)(qian)診(zhen)斷(duan)(duan)(duan)、新(xin)(xin)(xin)(xin)生(sheng)(sheng)(sheng)(sheng)(sheng)兒(er)疾病(bing)篩(shai)查(cha)(cha)、出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)鑒別診(zhen)斷(duan)(duan)(duan)和治(zhi)(zhi)(zhi)療(liao)(liao)等緊缺(que)(que)專(zhuan)業人(ren)(ren)才(cai)(cai)(cai)培(pei)訓(xun)力(li)度，夯實(shi)人(ren)(ren)才(cai)(cai)(cai)隊(dui)伍(wu)基(ji)礎。三是(shi)(shi)(shi)注(zhu)重綜(zong)合施策。統籌(chou)落實(shi)好婚前(qian)(qian)(qian)醫學檢查(cha)(cha)、孕(yun)前(qian)(qian)(qian)優生(sheng)(sheng)(sheng)(sheng)(sheng)健(jian)康檢查(cha)(cha)、增補葉酸(suan)預防神經管缺(que)(que)陷(xian)(xian)服(fu)務(wu)，改進(jin)服(fu)務(wu)模式(shi)，不斷(duan)(duan)(duan)提高(gao)目標人(ren)(ren)群(qun)覆蓋(gai)率和服(fu)務(wu)對(dui)象依從性，重點加強對(dui)高(gao)風險人(ren)(ren)群(qun)的(de)(de)干(gan)預服(fu)務(wu)。加強產(chan)前(qian)(qian)(qian)篩(shai)查(cha)(cha)和產(chan)前(qian)(qian)(qian)診(zhen)斷(duan)(duan)(duan)，逐步提高(gao)陽性病(bing)例(li)(li)干(gan)預率。繼續推動(dong)新(xin)(xin)(xin)(xin)生(sheng)(sheng)(sheng)(sheng)(sheng)兒(er)多(duo)種遺(yi)傳代謝病(bing)篩(shai)查(cha)(cha)，提高(gao)篩(shai)查(cha)(cha)率和陽性病(bing)例(li)(li)的(de)(de)確(que)診(zhen)治(zhi)(zhi)(zhi)療(liao)(liao)率。四是(shi)(shi)(shi)聚焦重點疾病(bing)。針(zhen)對(dui)先天(tian)性心(xin)(xin)(xin)臟病(bing)、聽(ting)力(li)障礙等嚴重多(duo)發、可診(zhen)可治(zhi)(zhi)(zhi)、愈后良好、費用可控的(de)(de)出(chu)(chu)(chu)生(sheng)(sheng)(sheng)(sheng)(sheng)缺(que)(que)陷(xian)(xian)病(bing)種，探(tan)索開(kai)展一(yi)(yi)體化(hua)綜(zong)合防控模式(shi)。